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  3. AHDC1
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Cerebral Palsy

Gene: AHDC1

Green List (high evidence)
AHDC1 (AT-hook DNA binding motif containing 1)
EnsemblGeneIds (GRCh38): ENSG00000126705
EnsemblGeneIds (GRCh37): ENSG00000126705
OMIM: 615790, Gene2Phenotype
AHDC1 is in 6 panels

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

3 additional individuals with mono-allelic LOF (2 stopgain, 1 frameshift deletion) reported in large-scale exome sequencing study.
Created: 27 May 2024, 2:49 a.m. | Last Modified: 27 May 2024, 2:49 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Xia-Gibbs syndrome, MIM#615829

Publications

Created: 27 May 2024, 2:49 a.m.
Last Modified: 27 May 2024, 2:49 a.m.
Panel version: 1.193

Luisa Weiss (University of Adelaide)

Green List (high evidence)

3 individuals in CP cohort with mono-allelic de novo variants (2 frameshift, 1 6-AA-deletion).

Other ADHC1 frameshift mutations have been known to cause an early onset neurological disorder with absent or poor expressive language, obstructive sleep apnea and brain abnormalities.
Sources: Literature
Created: 22 May 2023, 3:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Xia-Gibbs syndrome, MIM#615829

Publications

Created: 22 May 2023, 3:25 a.m.

Panel version: 1.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Xia-Gibbs syndrome, MIM#615829
OMIM
615790
Clinvar variants
Variants in AHDC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahdc1 has been classified as Green List (High Evidence).

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahdc1 has been classified as Green List (High Evidence).

22 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Luisa Weiss (University of Adelaide)

gene: AHDC1 was added gene: AHDC1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AHDC1 were set to 33528536 Phenotypes for gene: AHDC1 were set to Xia-Gibbs syndrome, MIM#615829 Review for gene: AHDC1 was set to GREEN